A reminder that a satellite symposium on SMA entitled “NMJ in spinal muscular atrophy - the chicken or the egg?” is being sponsored by Families of SMA, FightSMA, MDA, and SMA Foundation. The event, to be held Monday, November 5, 2007 at 6:30pm in the Annie Room of the Manchester Grand Hyatt San Diego, will be moderated by Dr. Michael Sendtner of the Universität Würzburg Institut für Klinische Neurobiologie in Germany. After refreshments from 6:30-7:10 PM, the meeting agenda is as follows:

For more information, meeting attendees can stop by the SMA organizations’ booth, #4301.

A list of more upcoming professional meetings can be found at the FightSMA website.

Atlanta-based biopharmaceutical company Tikvah Therapeutics announced this week that it has received orphan drug status from the U.S. Food and Drug Administration for use of sodium phenylbutyrate as a treatment for spinal muscular atrophy (SMA).  The orphan drug status gives Tikvah seven years of market exclusivity for use of phenylbutyrate for SMA treatment.

Findings from in vitro studies by Tikvah, as well as pilot clinical work, suggest that phenylbutyrate treatment in SMA patients may improve motor function.

Tikvah will be working in conjunction with the FDA, and collaborative clinical trial groups focused on SMA to develop well-controlled multicenter trials to fully evaluate sodium phenylbutyrate in the treatment of SMA. Tikvah Therapeutics is also supporting research on new diagnostic approaches and new therapeutic approaches to the treatment of SMA and allied neurodegenerative diseases such as ALS (amyotropic lateral sclerois) and MS (multiple sclerosis).

Click here to view Tikvah’s entire announcement.

Spinal muscular atrophy (SMA) researchers Tristan Coady and Travis Baughan, from FightSMA Science Director Dr. Chris Lorson’s laboratory at the University of Missouri, will attend and present their studies at the American Society of Gene Therapy (ASGT) Meeting in Seattle, May 30th – June 3rd.

At this year’s ASGT meeting Travis will present, “Modulating SMN2 pre-mRNA splicing: Identification of optimal targets for bi-functional RNAs.” Travis has developed second generation bi-functional RNAs that target repressor elements within SMN2 while recruiting positive factors to facilitate exon7 inclusion. Bi-functional RNAs have two functional domains, one that is a RNA sequence complimentary to the target RNA (in this case SMN2) and another that serves as a binding substrate for splicing factors which in turn promote full-length SMN expression. The original observations concerning the successful application of first generation bi-functional RNAs to alter SMN2 splicing and promote increased inclusion of exon7 were reported in the journal Molecular Therapy, 2006. The current goal of these studies is to validate the effectiveness of bi-functional RNAs in mouse models of SMA. The successful application of this technology in SMA to promote inclusion of SMN2 exon7 can be easily adapted to other diseases that are a result of aberrant pre-mRNA splicing.

Another therapeutic approach being investigated by Tristan Coady is the application of trans-splicing. Trans-splicing relies upon pre-mRNA splicing occurring between two different molecules; the endogenous RNA (for example SMN2) and the therapeutic RNA. The therapeutic RNA used in these studies contains SMN1 exon7 which when trans-spliced will form an mRNA with exons1-6 of SMN2 and exon7 of SMN1. Tristan’s studies have successfully identified trans-splicing RNAs that increase expression of full-length SMN and produce elevated levels of SMN in SMA patient fibroblasts. These studies are currently in press in the journal Molecular Therapy. The functionality of these trans-spliced RNAs is currently being tested in both tissue culture and mouse models. Tristan will present a podium presentation at the ASGT meeting entitled, “SMA Based Therapeutic Trans-Splicing RNAs Repair SMN1 Deficiency.”

FightSMA is a proud sponsor of the 10th Annual ASGT Meeting and will also be present in the Exhibit Hall at booth 324. Visitors to the booth can receive information about FightSMA research funding opportunities and can meet FightSMA scientific representatives Dr. Chris Lorson and Dr. Monique Lorson, both of the University of Missouri.

After opening with a cocktail reception the night before, the FightSMA Annual Conference hosted a full day of researcher presentations on Monday at the L’Enfant Plaza Hotel in Washington, D.C. FightSMA Science Director Dr. Christian Lorson kicked off the day at 8 o’clock in the morning with a review of the basic science of spinal muscular atrophy (SMA). This was followed by eleven scientists who represented the United States, Canada, Germany, Italy, the National Institutes of Health, university researchers, and private sector biotechnology corporations. With the contributions of the additional scientists and researchers in the audience, this diverse group openly discussed published and unpublished research, recent successes and failures, and novel tactics in the fight against SMA. The energy of the room was evident as the attendees looked towards the second day of presentations on Tuesday.

Fight SMA has a new partner in its search for a treatment or cure for spinal muscular atrophy (SMA). The international nonprofit organization has established a research and development collaboration with PTC Therapeutics, Inc (PTC) to identify and develop a compound that can be used to treat SMA. SMA is the leading genetic cause of infantile death, yet there currently is no treatment available. PTC Therapeutics, Inc. is a biopharmaceutical company focused on the discovery and development of orally administered, proprietary small-molecule drugs that target post-transcriptional control processes, and has made great strides toward developing compounds for a variety of genetic disorders including cystic fibrosis (CF) and Duchenne muscular dystrophy (DMD).“This is an exciting opportunity to push toward a treatment for SMA,” said Dr. Christian Lorson, PhD, Scientific Director of FightSMA. “The unique genetic context of SMA is well-suited for the type of therapeutic intervention in which PTC Therapeutics specializes, and with the highly skilled scientists at PTC, we are hopeful that great strides can be made towards identifying a drug for this devastating disease.”

“We’re thrilled that PTC Therapeutics is committed to the fight,” said Fight SMA President Martha Slay. “The team at PTC is dedicated and experienced. Theirs is an incredible combination of talent and determination to see these therapies delivered to children and adults suffering with SMA.”

PTC Therapeutics, Inc. is also a sponsor of the annual international Fight SMA research conference, The Good Fight. The conference will be held in Washington, DC from April 22nd to the 24th.